NIH Natural Histories Study - Day 5

It’s the last day of the study! It will be so good to be back home tomorrow night where we can all sleep and recover from this week. 

Today started with a skeletal survey and bone age analysis, so basically a bunch of x-rays. It’s a good thing x-rays are taken so quickly otherwise we never would have been able to hold Teddy still for them. As it was, we managed to get all the angles except his feet held sideways and his head sideways. So they got all the body parts pictured, just not both angles on the feet and head. Considering that Teddy fought us the entire time, clinging to Dave like a monkey to a tree in between each x-ray, we were satisfied with that amount of pictures. I think the x-ray technician got her workout in dashing behind the screen as quick as she could to get the pictures snapped each time. It wasn’t fun, but it wasn’t an epic fail. (That would be the dexa scan later in the day.) 

Teddy had woken up just before 6 this morning happy after a decent night’s rest, but he was tired already before we left the Children’s Inn. One good night’s sleep doesn’t make up for the past couple rough ones. We tried a nap before and during hematology, but that didn’t work. Hematology was really short and uneventful because there was nothing abnormal with Teddy from the labs that were already back. They wanted to run a few more and put in orders for them, but we found out before we had them done that the Natural Histories team said they were already done and/or not necessary. I’m glad we heard that before we attempted labs for a third time this week. 

Dave and Ted's artwork this morning.

Dave continued his unsuccessful attempts at naps (for Teddy, not him) until our escort took us for Teddy’s photo shoot. Normally Teddy is a ham for big cameras, hence his supremely cheesy preschool picture, but this week has him freaked out about every room we enter. He managed a few smiles though the shoot, and it was only about 10-15 minutes to get all the pictures needed. The idea is to capture on film what his body looks like now for future study and analysis of features as they change over time. (Yes, that means we anticipate coming back here. More on that later after our wrap up with his team.) We also got a family picture taken with Teddy trying to escape Dave’s arms, which is a pretty standard family picture for us. I really felt like we should have been able to hold signs like you do after you complete or fail and escape room. I wanted, “We survived our week at NIH!” or “Those tests were hard!”

We then had a different immunologist come to see Teddy to discuss the irritation around his eyes, which was not surprisingly considerably less today than on Wednesday when they had been taped for his anesthesia. The two immunologists discussed with us that it’s the question of the chicken or the egg—does Teddy rubbing his eyes cause them to become irritated or does he rub them because they’re irritated? Regardless, it’s not significant enough that it warrants treatment. Again, allergy testing was discussed as something not to pursue at this time because it’s essentially not worth putting Teddy through the testing. If he has allergies, they’re mild enough that an OTC medication like Zyrtec would be all he needs. So we’re going to try a 30-day run of Zyrtec and see if we notice any changes with his behaviors. I liked what the immunologist said that you can only do so much and have to focus on what’s most important because life is chaotic.

This is how we spend time between appointments.

We attempted the dexa scan, which involves laying on your side for a 25- to 30-second scan to measure your bone density. Even at his best, Teddy doesn't sit still or hold still for 25-30 seconds. At his I'm-freaked-out-about-all-these-procedures, we can't hold him still on his side for any amount of time. We barely got the side x-rays of his spine, and that only takes a second of stillness. So that was determined to be a fail with the technician requesting we come back when he was worn out (ha, he already was) or at a different time to try again. 

We grabbed some lunch and ate quickly before noon when we were scheduled for hepatology, which is the study of the liver and related systems. For some reason that doctor hasn’t showed up yet despite it being almost 1 as I write this. That’s not the worst thing for us because Teddy fell asleep and is getting some much needed rest (as is my big kid who is now snoring along with Teddy).

One exhausted boy. (And apparently sick, too.)

One of the weird things about this study is that we are admitted into the in-patient unit, which really had us worrying the first day if we were required to stay here overnight. Even though he’s admitted as in-patient, he gets pass every night to go to the Children’s Inn. Dave’s guess is that it makes it much easier for everything to be scheduled for the week, especially since about half his appointments are done bedside in his room, if he’s admitted and has the same room all week.

The hepatologist came nearly an hour late, which was perfectly timed to Teddy being awake, hungry and happy. He was eating his pizza and milkshake when the hepatologist arrived and cautioned us (as the second doctor) about his propensity due to CDG to have extra fat in his liver and the need to limit carbs to prevent excess belly fat. Seriously, it just happens that he has milkshakes when the nutritionist and hepatologist come into the room ... at least it didn't happen, too, with the endocrinologist. The message is clear, though, that we do need to work a bit harder at offering healthier food choices to Teddy more consistently. Excess fat could cause issues within his liver, although the remarkably brief test they did (a fibroscan) showed normal results. He tolerated that test really well thankfully with only a brief cry and mostly smiles as they tickled his belly. This was what we had expected of him most of this week. The other reason weight is a concern is to ensure he's not having to work extra hard to move with extra weight. Why couldn't he have AJ's build?

After that we visit, we went back to the dexa scan. We did our best to hold him down and attempted two scans. Even with both of us holding him (and somewhat minimal screaming the second time), there was still too much wiggle for the scan to be successful. This scan measures bone density, which tends to be lower in children with CDG. I seriously doubt even if Teddy wasn't freaked out by the medical procedures that we couldn't have gotten him to stay still long enough for the scan. That 30 seconds is an eternity to a child in constant motion.

When the study is done, it's time to play!

That was the last thing on the schedule until our debrief, so we took that break to head outside and enjoy the sunshine. We played on the playground, and we were all smiles to be done. When we headed in after a half hour of fun, Teddy was instantly crabby. We were walking him around the hall to the play room to occupy him until his team came when he refused to walk. Dave picked him up and carried him down the hall a bit before Teddy vomited all over Dave, himself and the floor. We took him back to his room to avoid more public puking while nurses and housekeeping cleaned chunks of grapes off the floor. 

Fortunately Dave had a long-sleeve shirt that he could change into, and we stripped Teddy's shirt. He was absolutely miserable, whimpering and crying and flopping around between us trying to find something that made him feel better. His team arrived after 30 minutes or so and was somewhat concerned about the vomiting. Lynne put in an order for liquid Ibuprofin because we didn't think he'd tolerate the tablets we had to hopefully make him feel better. He managed a few smiles for her but spent most of the time crying, whimpering and being consoled as best as Dave could. 

I think Teddy's illness detracted from the debrief, but we each received a packet that's probably 50 pages double-sided of reports. And this isn't the full report because some tests still aren't back yet or reports aren't written. We were told to disregard any labs or tests that showed an H for high or L for low if they weren't something we discussed this week because they were either close to the normal range or things that weren't concerning to them. 

A few findings they noted:

1. His overall iron levels were fine, but his ferritin was low. 
2. His carotene, which usually comes from red meat, was low in his muscle cells but not overall. This is something that we actually received a prescription to supplement. Low carotene levels can actually diminish muscle capabilities, which isn't necessarily the case in Teddy, but it's worth treating.
3. His MRI showed cerebral abnormalities, not as significant as findings in other CDG patients. Lynne noted that one of their neurologists often says that pictures of brain don't reflect what a person can do. This is something, though, that should be monitored over time to note any changes.
4. He is technically obese, which he might outgrow as he gains more height, but it is concerning to the dietician, hepatologist and endocrinologist for the reasons stated above. (Maybe it's my "Mom" bias, but he looks well proportioned to me despite my frequent comments as I carry him that he needs to lose weight.)
5.  Follow-up studies would likely be 2-3 days instead of repeating all the testing. Tests relevant to his diagnosis in particular or Teddy in particular would be the focus. Follow-up testing would likely not occur for at least another year, most likely 2-3, unless something of significance changes.

The team (Carlos, Tara and Lynne) all thanked us for our willingness to participate in the study. Carlos said that we are now part of their family and that we can reach out to them at any time with any questions. Probably the best part of this experience for me is that each specialist who met with Teddy has experience with other people who have CDG and GPI-anchoring disorders. That means we can now at least ask a question back to the team where there is some level of familiarity with these types of disorders. It's not that we don't like or don't trust our team back home, but no one there knows these disorders-they've essentially been learning with us. 

We asked for a group picture of the team with Teddy, despite his miserableness. There was one picture I snapped where he was crying, but I joked that we could almost pretend he was smiling. No sooner had I finished taking the pictures and making that comment did he unload the rest of his grapes and pizza onto himself, his stroller and the floor.

Lynne, Tara and Carlos with Teddy. These people are incredible.

We weren't happy that he vomited again, but it was nice to have the team there. I was impressed that Carlos put on gloves and helped clean while Lynne ordered an anti-nausea medication for him to go with the Ibuprofin. Lynne also determined she wasn't discharging Teddy today. She left it up to us whether we spent the night at the clinic or at the Children's Inn. But if she discharged Teddy and we had issues, we'd have to go through the readmission process. This way she can discharge him by phone tomorrow morning if he appears healthy, but we have immediate access to care if we need it tonight.

Teddy perked up after about 30 minutes or so, once the medicine kicked in, so we decided to at least head to the Inn to grab some supper and take it from there. Before we left, I picked up some additional liquid Ibuprofin from the pharmacy, along with the carotene prescription, so thanks for your tax dollars for those medications (as Lynne put it). The reality is that our taxes do fund a large portion of the research, care and facilities, so thanks for your financial support in this endeavor along with your morale support. (And as a side note, we're right across the road from Walter Reed. I found that interesting.)

We headed back to the Inn, and I made supper while Teddy colored on the bed. Literally colored on the blanket instead of the coloring books apparently. Whoops. Teddy ate a yogurt and applesauce and drank a cup or two of water this evening, so we're hoping he's over whatever it was and that it's not just the medicine masking the symptoms. We're also hoping that we don't end up puking either. Teddy was his usual self, laughing, playing and thinking he was super cool and funny the rest of the evening. We kept him mostly in our room, aside from trips to do laundry and eat in the kitchen, to avoid spreading any germs he might have. He was wound up, so he didn't go to bed until after 9, but he was extremely happy all evening. It was nice to have our Teddy back because he had us really concerned this afternoon. (I'm still worried that once the meds wear off that we might end up making a trip to the clinic in the middle of the night, but I'm hoping everything is fine.)

So we have a huge report to read, with different reports from each physician or test included. However, some of the reports, including sleep study, EEG and neurodevelopment, aren't complete yet. So we'll continue to receive reports through the next couple weeks to a month until we get them all. It's going to take a while to sift through and read them all, but we have a lot of material to share with his team back home.

This is how happy we are to be done with all the tests!

At some point, I'll likely do another post about either results or the experience once I've had time to process it, but here's what I'll say for now. I was extremely impressed with how knowledgeable, interested, compassionate and patient everyone was. Some of the doctors knew where we were from, where Dave worked and had read parts of this blog. Everyone, except that one phlebotomist, had a smile for Teddy. (I think it was just his demeanor-he was really good at what he did.) It was an incredibly intense, overwhelming week filled with highs and lows. It seemed like a win came when we needed it, a reason to smile after a screaming procedure. We couldn't be more impressed with the study team. We have an enormous amount of information to process and understand. 

As Dave just said, "It's been a tough week, Wifie." It has, but it's worth it. It's worth it for us to have this team of experts now available as a resource. It's worth it to have met Alexa and her family, which happened because we were in the area for the study. It's worth it to have the information about Teddy, even if a lot of the tests showed no concerns. When you have a non-verbal child who you struggle to understand, knowing that a lot of things are fine is reassuring. It's worth it for any other child, adult or family who benefits from the information gathered and what they were able to learn from Teddy.